Treatment of ADHD in neurofibromatosis type 1

Mautner, Victor‐F.; Kluwe, Lan; Thakker, Sarang D; Leark, Robert A.

doi:10.1017/s0012162201001876

Cited by 200 publications

(124 citation statements)

References 19 publications

Supporting

Mentioning

116

Contrasting

Order By: Relevance

“…Multiple studies have suggested that there is an association between NF1 and the symptom profile of ADHD as defined by the Diagnostic and Statistical Manual IV criteria: a constellation of inattention, hyperactivity, and impulsivity [3,23]. Comorbidity of NF1 and ADHD has been reported in 30% to 50% of children with NF1 [6••, [24][25][26]. The frequency of the ADHD diagnosis in boys and girls is similar in patients with NF1, unlike the general population where there is a strong predominance of male patients versus female patients of approximately three to one [6••].…”

Section: Attention Deficit Hyperactivity Disordermentioning

confidence: 99%

Neurofibromatosis type 1: New insights into neurocognitive issues

Acosta

Gioia²,

Silva³

2006

Curr Neurol Neurosci Rep

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder with a prevalence of approximately 1 in 3500 people. Academic difficulties and school failure are the most common reported complication of NF1 in childhood and are present in 40% to 60% of the cases. They are often the most significant cause of lifetime morbidity in this population. Recent advances in the recognition and characterization of the cognitive phenotype in NF1 patients have provided a better understanding of the neuropsychologic deficits that account for the impairments in cognitive performance and social interaction. Additionally, recent advances in the understanding of molecular and cellular mechanisms underlying the cognitive deficits in NF1, as well as developments in neuroimaging and molecular genetic techniques are starting to yield a global and integrative picture of the molecular, cellular, and brain system processes affected by this condition. This review focuses on these advances, as well as recent preclinical studies that point towards potential pharmacologic interventions for NF1 patients.

show abstract

Section: Attention Deficit Hyperactivity Disordermentioning

confidence: 99%

Neurofibromatosis type 1: New insights into neurocognitive issues

Acosta

Gioia²,

Silva³

2006

Curr Neurol Neurosci Rep

View full text Add to dashboard Cite

show abstract

“…Attention deficit disorder was diagnosed according to the criteria described by DSM-IV (American Psychiatric Association 1998). The patient received a Test of Variables of Attention (TOVA), a computerized continuous performance test with a non-language-based stimulus (Mautner et al 2002). The study protocol was approved by the institutional review board and informed consent was obtained from the patient and his family.…”

Section: Clinical and Neuropsychological Examinationsmentioning

confidence: 99%

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

2005

Self Cite

View full text Add to dashboard Cite

Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only seven cases have been reported so far. Here, we describe a 26-year-old NF1 patient with an "atypical" NF1 deletion of 2-Mb. In contrast to the 1.4-Mb deletions, which preferentially occur by interchromosomal recombination during maternal meiosis, the deletion described here occurred intrachromosomally on the paternal chromosome. The centromeric deletion breakpoint lies in an L1-element located 1.3-Mb proximal to the NF1 gene. The telomeric deletion boundary is located in a single copy segment between an AT-rich segment and an AluSx-element in intron 15 of the JJAZ1 gene. Structural analysis implies that non-B DNA conformations at the breakpoints destabilized the duplex DNA and caused double-strand breaks. Although the breakpoints of this 2-Mb deletion are not recurrent, it is conspicuous that one breakpoint is located in the JJAZ1 gene. Paralogous recombination between the JJAZ1 gene and its pseudogene causes the recurrent 1.2 Mb deletions. The genomic architecture of the NF1 gene region, influenced by paralogous sequences such as the JJAZ1 gene and its pseudogene, seems also to stimulate the occurrence of non-recurrent deletions mediated by non-homologous end joining. Patient 442 described here suffers from a very high burden of subdermal neurofibromas. Magnetic resonance imaging of the whole body revealed numerous internal tumors, mainly plexiform neurofibromas and spinal tumors. This demonstrates the value of whole-body MRI scanning in determining the total tumor load, which is an important aspect in genotype/phenotype correlations with regard to large NF1 deletions.

show abstract

“…Approximately 50% of such patients have a learning disability, with no specific pattern unique to those with NF1 [51]. Both verbal and nonverbal disabilities occur, as well as attention deficit disorder [52]. Fewer than 10% have mental retardation [53], and seizures occur in approximately 6-10% of all such patients [54].…”

Section: Neurofibromatosis Typementioning

confidence: 99%

Interneuron Dysfunction in Syndromic Autism: Recent Advances

Takano¹

2015

Dev Neurosci

View full text Add to dashboard Cite

Autism is an extremely heterogeneous disorder, but its frequent cooccurrence with epilepsy leads to speculation that there may be common mechanisms associated with these disorders. Inhibitory interneurons are considered to be the main cellular elements that control hyperexcitability in the brain, and interneuron dysfunction can cause pathological hyperexcitability linked to seizure susceptibility or epilepsy. This review summarizes some of the recent advances that support the relationship between interneuron dysfunction and cognitive impairment in human syndromic autism, with particular reference to the pathophysiological findings of murine experimental models of autism. Alterations in γ-aminobutyric acid (GABA)ergic circuits include a wide variety of neurobiological dysfunctions and do not simply involve the loss or gain of any given type of inhibitory mechanism. The characteristics of interneuron dysfunction in each murine model of autism differ for each syndrome, and these diversities may be due to differences in genetic backgrounds or some other currently unknown variances. Future studies should give us a greater understanding of the involvement of different classes of GABAergic interneurons and allow us to define the relationship between the precise pathophysiological mechanisms and the corresponding clinical phenotypes in autism.

show abstract

Treatment of ADHD in neurofibromatosis type 1

Cited by 200 publications

References 19 publications

Neurofibromatosis type 1: New insights into neurocognitive issues

Neurofibromatosis type 1: New insights into neurocognitive issues

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

Interneuron Dysfunction in Syndromic Autism: Recent Advances

Contact Info

Product

Resources

About